Imunodeficiências primárias

Imunodeficiência primária

Lista de Genes
ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, ALG1, ALG12, ALPI, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARPC1B, ATAD3A, ATG4A, ATM, ATP6AP1
B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK
C1QA, C1QB, C1QC, C1R, C1S, C2, C2orf69, C3, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD28, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CHUK, CIB1, CIITA, CLCN7, CLEC7A, CLPB, COPA, COPB1, COPG1, CORO1A, CR2, CRACR2A, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTNNBL1, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1
DBF4, DBR1, DCLRE1B, DCLRE1C, DEF6, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DSG1, DUOX2
EFL1, ELANE, ELF4, EP300, EPG5, ERBIN, ERCC4, EXTL3
FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBLIM1, FCGR3A, FCHO1, FCN3, FERMT1, FERMT3, FNIP1, FOXN1, FOXP3, FPR1
G6PC3, G6PD, GATA2, GFI1, GINS1
HAVCR2, HAX1, HELLS, HMOX1, HYOU1
ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, ITPKB, IVD, IVNS1ABP
JAGN1, JAK1, JAK3
KDM6A, KMT2A, KMT2D, KRAS
LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LSM11, LYST
MAD2L2, MAGT1, MALT1, MAN2B2, MAP1LC3B2, MAP3K14, MAPK8, MASP2, MBL2, MCM10, MCM4, MECOM, MEFV, MMUT, MOGS, MPEG1, MRE11, MRTFA, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYSM1
NBAS, NBN, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NGF, NHEJ1, NHP2, NLRC3, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, NOP10, NOS2, NRAS, NSMCE3, NUP214
OAS1, ORAI1, OSTM1, OTULIN
PALB2, PARN, PAX1, PCCA, PCCB, PDCD1, PEPD, PGM3, PIK3CD, PIK3CG, PIK3R1, PLCG2, PLEKHM1, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, POU2AF1, POU6F1, PRF1, PRKCD, PRKDC, PSEN1, PSENEN, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTEN, PTPN22, PTPRC
RAB27A, RAC2, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RPSA, RTEL1
SAMD9, SAMD9L, SAMHD1, SASH3, SBDS, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SIK3, SKIC2, SKIC3, SLC26A3, SLC29A3, SLC35C1, SLC39A4, SLC39A7, SLC46A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNX10, SOCS1, SP110, SPI1, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5B, STAT6, STIM1, STING1, STK4, STN1, STX11, STXBP2, SYK
TAFAZZIN, TAP1, TAP2, TAPBP, TBK1, TBX1, TBX21, TCF3, TCIRG1, TCN2, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TINF2, TIRAP, TLR3, TLR7, TLR8, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TOP2B, TP53, TPP1, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TTC7A, TYK2
UBA1, UBE2T, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18
VPS13B, VPS45
WAS, WDR1, WIPF1, WRAP53
XIAP, XRCC2
ZAP70, ZBTB24, ZNF341, ZNFX1
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido